Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report

Abstract

BackgroundWe report a patient with cytogenetically confirmed Fanconi anaemia with associated diffuse bilateral pulmonary arterio-venous fistulae. This is only the second reported case of diffuse pulmonary arterio-venous fistulae with Fanconi anaemia.Case PresentationA 16 year old Sri Lankan boy, with a cytogenetically confirmed Fanconi anaemia was admitted to University Medical Unit, National Hospital of Sri Lanka for further assessment and treatment. Both central and peripheral cyanosis plus clubbing were noted on examination. The peripheral saturation was persistently low on room air and did not improve with supplementary Oxygen. Contrast echocardiography failed to demonstrate an intra cardiac shunt but showed early crossover of contrast, suggesting the possibility of pulmonary arterio-venous fistulae. Computed tomography pulmonary angiogram was inconclusive. Subsequent right heart catheterisation revealed bilateral diffuse arterio-venous fistulae not amenable for device closure or surgical intervention.ConclusionTo our knowledge, this is the second reported patient with diffuse pulmonary arterio-venous fistulae associated with Fanconi anaemia. We report this case to create awareness among clinicians regarding this elusive association. We recommend screening patients with Fanconi anaemia using contrast echocardiography at the time of assessment with transthoracic echocardiogram. Though universal screening may be impossible given the cost constraints, such screening should at least be performed in patients with clinical evidence of desaturation or when a therapeutic option such as haematopoietic stem cell transplantation is considered. Treatment of pulmonary arteriovenous fistulae would improve patient outcome as desaturation by shunting worsens the anaemic symptoms by reducing the oxygen carrying capacity of blood.

Existence, triggers, and coping with chronic sorrow: a qualitative study of caretakers of children with sickle cell disease in a National Referral Hospital in Kampala, Uganda

“…Mulago is one of two national referral hospitals in Uganda and also serves as the teaching hospital for Makerere University College of Health Sciences and several other training institutions in Uganda. The hospital has a bed capacity of 1500 and an annual inpatient turnover of 120,000 [ 2 ]. The sickle cell clinic runs cost-free daily services and receives about 250–300 patients each week.…”

“…It is estimated that over 300,000 babies worldwide are born with Sickle Cell Disease (SCD) annually [ 1 ]. In Uganda, 70–80% of children with SCD die before the age of 2 years and those who survive live a compromised quality of life due to the effects of the disease [ 2 ]. Children with SCD usually experience vaso -occlusion which results in pain, anemia, stroke, leg ulceration, organ damage and early mortality [ 3 ].…”

Lived experiences of Iranian parents of beta-thalassemia children

“…The prevalence rate of thalassemia is approximately 3–4% in Iran, in which there are more than three million beta-thalassemia carrier genes and approximately 800 children are born with thalassemia and added to this group annually 3. Thalassemia is a serious and life-limiting and life-threatening situation, which leads to serious disorders affecting a person’s social and educational activities and is associated with feelings of inferiority and being different and creates low self-esteem in patients 4,5…”

“…3 Thalassemia is a serious and life-limiting and life-threatening situation, which leads to serious disorders affecting a person’s social and educational activities and is associated with feelings of inferiority and being different and creates low self-esteem in patients. 4 , 5 …”

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“…Beta thalassemia is a serious life-limiting condition 5 that not only affects patients’ physical functioning but also their emotional functioning, social functioning, and school functioning, leading to impaired health-related quality of life (HRQOL) of the patients. 6 HRQOL is an important dimension of care 7 and can be seen as a way for assessment of patients’ perspectives about their disease and related treatments, their perceived needs for health care and their preference for treatment and disease outcomes.…”